A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16313



Internal ID15839347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181462876..181468127hg38UCSC Ensembl
Outerchr5:181461285..181470484hg38UCSC Ensembl
Innerchr5:180889877..180895128hg19UCSC Ensembl
Outerchr5:180888286..180897485hg19UCSC Ensembl
Innerchr5:180822483..180827734hg18UCSC Ensembl
Outerchr5:180820892..180830091hg18UCSC Ensembl
Innerchr5:180822483..180827734hg17UCSC Ensembl
Outerchr5:180820892..180830091hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389200
hg199200
hg189200
hg179200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10795
Supporting Variants
SamplesNA18972
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv16313
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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